Marcello AP - Search Results

1

Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene.

Fermo E, Bianchi P, Vercellati C, Marcello AP, Garatti M, Marangoni O, Barcellini W, Zanella A. Fermo E, et al. Among authors: marcello ap. Blood Cells Mol Dis. 2008 Jul-Aug;41(1):50-5. doi: 10.1016/j.bcmd.2008.02.002. Epub 2008 Mar 17. Blood Cells Mol Dis. 2008. PMID: 18343696

2

A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia.

Fermo E, Bianchi P, Vercellati C, Micheli S, Marcello AP, Portaleone D, Zanella A. Fermo E, et al. Among authors: marcello ap. Blood Cells Mol Dis. 2004 Sep-Oct;33(2):146-9. doi: 10.1016/j.bcmd.2004.06.002. Blood Cells Mol Dis. 2004. PMID: 15315793

3

Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect.

Mariani M, Barcellini W, Vercellati C, Marcello AP, Fermo E, Pedotti P, Boschetti C, Zanella A. Mariani M, et al. Among authors: marcello ap. Haematologica. 2008 Sep;93(9):1310-7. doi: 10.3324/haematol.12546. Epub 2008 Jul 18. Haematologica. 2008. PMID: 18641031 Free article.

4

A case of congenital red cell pyruvate kinase deficiency associated with hereditary stomatocytosis.

Marcello AP, Vercellati C, Fermo E, Bianchi P, Zaninoni A, Barcellini W, Zanella A. Marcello AP, et al. Blood Cells Mol Dis. 2008 Nov-Dec;41(3):261-2. doi: 10.1016/j.bcmd.2008.07.001. Epub 2008 Aug 16. Blood Cells Mol Dis. 2008. PMID: 18708292 No abstract available.

5

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

Bianchi P, Fermo E, Vercellati C, Boschetti C, Barcellini W, Iurlo A, Marcello AP, Righetti PG, Zanella A. Bianchi P, et al. Among authors: marcello ap. Hum Mutat. 2009 Sep;30(9):1292-8. doi: 10.1002/humu.21077. Hum Mutat. 2009. PMID: 19621418

6

CDAII presenting as hydrops foetalis: molecular characterization of two cases.

Fermo E, Bianchi P, Notarangelo LD, Binda S, Vercellati C, Marcello AP, Boschetti C, Barcellini W, Zanella A. Fermo E, et al. Among authors: marcello ap. Blood Cells Mol Dis. 2010 Jun 15;45(1):20-2. doi: 10.1016/j.bcmd.2010.03.005. Epub 2010 Apr 9. Blood Cells Mol Dis. 2010. PMID: 20381388

7

A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.

Fermo E, Bianchi P, Chiarelli LR, Maggi M, Mandarà GM, Vercellati C, Marcello AP, Barcellini W, Cortelezzi A, Valentini G, Zanella A. Fermo E, et al. Among authors: marcello ap. Mol Genet Metab. 2012 Aug;106(4):455-61. doi: 10.1016/j.ymgme.2012.05.015. Epub 2012 May 30. Mol Genet Metab. 2012. PMID: 22705348

8

A case of hereditary spherocytosis misdiagnosed as pyruvate kinase deficient hemolytic anemia.

Vercellati C, Marcello AP, Fermo E, Barcellini W, Zanella A, Bianchi P. Vercellati C, et al. Among authors: marcello ap. Clin Lab. 2013;59(3-4):421-4. Clin Lab. 2013. PMID: 23724634

9

Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families.

Fermo E, Vercellati C, Marcello AP, Zaninoni A, van Wijk R, Mirra N, Curcio C, Cortelezzi A, Zanella A, Barcellini W, Bianchi P. Fermo E, et al. Among authors: marcello ap. Case Rep Hematol. 2017;2017:2769570. doi: 10.1155/2017/2769570. Epub 2017 Mar 6. Case Rep Hematol. 2017. PMID: 28367341 Free PMC article.

10

'Gardos Channelopathy': a variant of hereditary Stomatocytosis with complex molecular regulation.

Fermo E, Bogdanova A, Petkova-Kirova P, Zaninoni A, Marcello AP, Makhro A, Hänggi P, Hertz L, Danielczok J, Vercellati C, Mirra N, Zanella A, Cortelezzi A, Barcellini W, Kaestner L, Bianchi P. Fermo E, et al. Among authors: marcello ap. Sci Rep. 2017 May 11;7(1):1744. doi: 10.1038/s41598-017-01591-w. Sci Rep. 2017. PMID: 28496185 Free PMC article.

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